Varaico: Literature-Extracted Genetic Variants

EYS

677 papers

RefSeq Summary

The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal ...

Pfam Domains

EGFaa 177–210UCSCEGF-like domain

EGFaa 685–712UCSCEGF-like domain

hEGFaa 742–763UCSCHuman growth factor-like EGF

EGFaa 775–805UCSCEGF-like domain

EGFaa 813–845UCSCEGF-like domain

hEGFaa 899–920UCSCHuman growth factor-like EGF

Gene Aliases

HGNC Name

EGF-like photoreceptor maintenance factor

HGNC Previous Symbols

C6orf180; EGFL11; RP25; EGFL10; C6orf178; C6orf179

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001142800.2

p.V2944fs

c.8830_8831fs

Surrounding Variants

10 papers

NM_001142800.2

p.G2945E

c.8834G>A

NM_001292009.2

p.G2966E

c.8897G>A

1 paper

NM_001292009.2

p.S2953_T2961del9

c.8857_8882del27

1 paper

NM_001142800.2

p.L2941L

c.8821T>C

4 papers

NM_001142800.2

p.C2948R

c.8842T>C

1 paper

NM_001292009.2

p.C2969W

c.8907T>G

1 paper

NM_001142800.2

p.C2939S

c.8816G>C

1 paper

NM_001142800.2

p.C2939Y

c.8816G>A

1 paper

NM_001142800.2

p.C2939R

c.8815T>C

1 paper

NM_001142800.2

p.C2939S

c.8815T>A

2 papers

NM_001142800.2

p.L2938M

c.8812C>A

1 paper

NM_001142800.2

p.C2937W

c.8811C>G

43 papers

NM_001142800.2

p.Y2935*

c.8805C>G

NM_001292009.2

p.Y2956*

c.8868C>G